MTHFR: Infertility, Allergies, Low Mood, Migraines and Inflammation


MTHFR: Infertility, Allergies, Low Mood, Migraines and Inflammation



You may have recently heard talk of the ‘MTHFR’ and wonder: what on earth could it be?


MTHFR stands for methylene-tetrahydrafolate reductase (no wonder it gets shortened!), and is an enzyme that facilitates the conversion of folate (vitamin B9) into its active form in the body. The MTHFR gene determines the activity of the MTHFR enzyme, and research has revealed a number of variants of this gene in the population.


Our genes are like a genetic blueprint, and they give the instructions on how to create and carry out every process in the body. In the case of the MTHFR gene, it’s ensuring that the enzyme is created correctly so it can carry out its functions properly.


We all have two copies of each gene- one from mum and one from dad. Genetic mutations (also called variations and polymorphisms) are a common and necessary part of species diversity and evolution. You may also hear these variants referred to as ‘SNPs’, or single nucleotide polymorphisms. Genetic mutations mean that the instructions have changed for certain processes in the body. Sometimes this doesn’t affect things, and sometimes it does- either favourably or negatively.


The MTHFR gene sits on Chromosome 1. There are two key variants that are currently tested:

  • MTHFR C677T
  • MTHFR A1298C


Below is a list of possible combinations that people will have, and the effect on the MTHFR enzyme activity:

Heterozygous = 1 copy of the gene from either parent (along with 1 normal copy of the gene)
Homozygous = 1 copy of the gene from each parent

MTHFR C677T Heterozygous = 40% loss of function
MTHFR C677T Homozygous = 70% loss of function

MTHFR A1298C Heterozygous = 20% loss of function
MTHFR A1298C Homozygous = between 50-70%

MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = 50% loss of function


The C677T variant is associated with the greatest decrease in enzyme function, which results in a reduction of active folate in the body.


Why is folate important?

Folate is required for the following:

  • Synthesis of DNA, RNA, and cellular replication (especially in pregnancy).
  • Single carbon metabolism or methylation. Many critical reactions in the body require the donation of methyl groups to become active.
  • Amino acid metabolism (for neurotransmitter production and detoxification processes).
  • Formation and maturation of RBC (red blood cells), WBC (white blood cells) and platelet production.
  • Essential for detoxification of homocysteine, which is highly inflammatory in high amounts.
  • The balance and proper breakdown of histamine (which prevents allergic states including allergies, rashes and migraines).


Here is a diagram showing the many steps needed to convert folate into its active form, and the importance of the MTHFR enzyme. Folate is part of a much bigger circuit of reactions in the body, and is a key factor in the methylation cycle.


(Picture from

Do you have an MTHFR genetic polymorphism?

The two variants are common in the population, but you should consider getting tested especially if:

  • You have had multiple miscarriages (especially associated with the C677T polymorphism)
  • You have been trying to fall pregnant without success
  • You suffer from migraines
  • You have allergies such as hay fever
  • You suffer from depression and anxiety
  • You suffer from chronic pain or fibromyalgia


Certain blood tests can also indicate the need to investigate for MTHFR variants:

  • High or low homocysteine levels
  • High or low folate levels
  • High or low B12 levels


What can you do if you have one of the polymorphisms?

This will most likely mean that you have a reduced ability to produce active folate in your body. But don’t despair, there are many ways you can support your body to reduce any symptoms and improve your health.

Beside the MTHFR enzyme, many other vitamins and minerals are involved in methylation and producing folate, so ensuring you have all the nutrients you need is an important component of treatment. Addressing underlying and chronic inflammation is also a key area, which is why it is beneficial to work with a naturopath to determine your specific health needs.

**NOTE**: It’s logical to think that if you have low folate, then supplementing with active folate will remedy your symptoms. This is not always the case and especially in the initial phases of treatment this can sometimes make things worse and cause extremely negative side effects such as low mood, depression and even suicidal thoughts. If you have started to supplement with an active folate (methyl-folate) and you have experienced these symptoms, please speak to your healthcare practitioner.


At Balanced Life Health Care, we can assess your symptoms and determine the need for testing. The MTHFR is a simple blood spot test (or standard blood test) which can be recommended by one of our practitioners alongside other investigative testing.


About the Author

Emily Robertson

Emily Robertson is the naturopath and nutritionalist at Balanced Life Health Care. Emily has a bachelor of Naturopathy and has a passion for al things gut, skin and children’s health. To find out more about Emily click here or to make an appointment with Emily click here 



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